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Items: 63

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC129998788, LOC129998789
+227 more
Copy number loss
See cases
GPathogenic
ABCB1, ABCB4
+78 more
Copy number loss
See cases
GLikely pathogenic
CFAP69, LOC105375387
+13 more
Copy number gain
See cases
Gconflicting data from submitters
CFAP69, LOC105375387
+13 more
Copy number gain
See cases
GUncertain significance
CFAP69, LOC105375387
+13 more
Copy number gain
See cases
GLikely benign
CFAP69, LOC105375387
+13 more
Copy number gain
See cases
Gconflicting data from submitters
LOC105375387, LOC113748415
+12 more
Copy number gain
See cases
GUncertain significance
CFAP69, LOC105375387
+13 more
Copy number gain
See cases
GUncertain significance
LOC105375387, LOC126860099
+5 more
Copy number gain
See cases
GUncertain significance
LOC105375387, LOC126860099
+5 more
Copy number gain
See cases
GConflicting classifications of pathogenicity
LOC105375387, LOC126860099
+5 more
Copy number gain
See cases
GPathogenic
CFAP69, LOC105375387
+11 more
Copy number gain
See cases
GUncertain significance
CFAP69, LOC105375387
+11 more
Copy number gain
See cases
GLikely benign
CFAP69, LOC105375387
+9 more
Copy number gain
See cases
GUncertain significance
LOC105375387, LOC126860099
+3 more
Copy number gain
See cases
GUncertain significance
CDK14, CFAP69
+30 more
Copy number gain
See cases
GUncertain significance
CDK14, CFAP69
+28 more
Copy number gain
See cases
GUncertain significance
GTPBP10, LOC101927446
+11 more
Copy number gain
Diaphragmatic hernia
GUncertain significance
STEAP1, STEAP2-AS1
(D26N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(S36N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(H51Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(D56H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(H63D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(W71R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(Y107H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(A136P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(A137E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(I138T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(F170L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(V173I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(S181T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(M184V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(R186Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(G258R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
STEAP1, STEAP2-AS1
(A273T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(N275Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(I280T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(I303T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
STEAP1, STEAP2-AS1
(H322R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CDK14, CFAP69
+5 more
Copy number gain
not provided
GUncertain significance
AASS, ABCA13
+896 more
Copy number loss
See cases
GUncertain significance
CACNA2D1, CADPS2
+896 more
Complex
Ring chromosome 7
GPathogenic
ABCB1, ABCB4
+50 more
Copy number gain
not specified
GPathogenic
ATP5MF-PTCD1, AZGP1
+127 more
Copy number gain
Isolated Pierre-Robin syndrome
+1 more
GPathogenic
CFAP69, STEAP1
+2 more
Copy number gain
See cases
GUncertain significance
STEAP1, STEAP2
+2 more
Copy number gain
See cases
GUncertain significance
STEAP1, GTPBP10
+4 more
Copy number loss
not provided
GUncertain significance
CFAP69, STEAP1
+3 more
Copy number gain
not provided
GUncertain significance
PRSS1, PRSS37
+896 more
Copy number gain
not provided
GPathogenic
CFAP69, STEAP1
+3 more
Copy number gain
not provided
GUncertain significance
ZNF804B, STEAP1
+3 more
Copy number gain
not provided
GLikely benign
CACNA2D1, ERVW-1
+91 more
Deletion
not provided
GUncertain significance
CFAP69, STEAP1
+3 more
Copy number gain
See cases
GUncertain significance
CFAP69, STEAP1
+3 more
Copy number gain
See cases
GLikely benign
AVL9, AZGP1
+896 more
Copy number gain
See cases
GPathogenic
MCM7, MDFIC
+896 more
Copy number gain
See cases
GPathogenic
CFAP69, STEAP1
+3 more
Copy number gain
See cases
GLikely benign
AASS, ABCA13
+678 more
Deletion
Pleomorphic xanthoastrocytoma
GPathogenic
CFAP69, STEAP1
+3 more
Copy number gain
See cases
GUncertain significance
ARMC10, ASB4
+504 more
Inversion
Childhood apraxia of speech
GPathogenic
STEAP4, TEX47
+11 more
Copy number gain
Breast ductal adenocarcinoma
GUncertain significance
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